Gonçalo R. Abecasis

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

65.8Author DataRank

Indexed papers

21in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 21 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Nature(2007)10.1038/nature05874

Top 1%

12.9DataRank

Top 1%5277 citations

J Stamatoyannopoulos, Simon G. Gregory, T Gingeras, Eoghan Harrington, Zhiping Weng +286 more

Papers

Driven by 134 papers — median percentile 86. Top paper: “Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project”.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Nature(2007)10.1038/nature05874

Top 1%

12.9DataRank

Top 1%5277 citations

J Stamatoyannopoulos, Simon G. Gregory, T Gingeras, Eoghan Harrington, Zhiping Weng +286 more

A global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

A map of human genome variation from population-scale sequencing

Nature(2010)10.1038/nature09534

Top 2%

9.1DataRank

Top 2%8109 citations

Min Hu, Yuan Chen, Matthew N. Bainbridge, Richard M. Durbin, Si Quang Le +319 more

Whole-genome sequencing reveals host factors underlying critical COVID-19

Nature(2022)10.1038/s41586-022-04576-6

N/A

7.3DataRank · unranked

350 citations

Erola Pairo-Castineira, Konrad Rawlik, A. Stuckey, Christopher A. Odhams, Susan Walker +84 more

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Nature Genetics(2022)10.1038/s41588-021-00997-7

N/A

7.2DataRank · unranked

363 citations

Deepti Jain, Zhili Zheng, TOPMed Anthropometry Working Group, Stella Aslibekyan, Diane M. Becker +95 more

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

PLoS Genetics(2012)10.1371/journal.pgen.1002548

Top 3%

6.9DataRank

Top 3%543 citations

Johannes T. Roehr, Matthew B. McQueen, Fotini K. Kavvoura, Sachin Bagade, Brit-Maren M. Schjeide +61 more

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature Communications(2018)10.1038/s41467-018-06159-4

Top 3%

6.6DataRank

Top 3%260 citations

Yossi Farjoun, Ilya Shlyakhter, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +16 more

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

Nature(2017)10.1038/nature24018

Top 3%

6.4DataRank

Top 3%657 citations

Patrick Sulem, Birte Kehr, Snaedis Kristmundsdottir, Florian Zink, Eirikur Hjartarson +36 more

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Nature Genetics(2020)10.1038/s41588-020-0676-4

N/A

5.3DataRank · unranked

295 citations

Zilin Li, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu, Han Chen +88 more

Clonal haematopoiesis and risk of chronic liver disease

Nature(2023)10.1038/s41586-023-05857-4

N/A

4.5DataRank · unranked

204 citations

Connor A. Emdin, Alexander G. Bick, Seyedeh M. Zekavat, Abhishek Niroula, James P. Pirruccello +95 more

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Nature Genetics(2021)10.1038/s41588-021-00935-7

N/A

4.0DataRank · unranked

191 citations

Masahiro Kanai, Wanson Choi, Xinyi Li, Saori Sakaue, Kenichi Yamamoto +95 more

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2018)10.1038/s41467-018-04668-w

N/A

3.7DataRank · unranked

109 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

Annals of the Rheumatic Diseases(2011)10.1136/ard.2010.132787

N/A

3.6DataRank · unranked

148 citations

Ana M. Valdes, Unnur Styrkarsdottir, YanYan Zhu, Ingrid Meulenbelt, Rik J Lories +94 more

Clonal hematopoiesis associated with epigenetic aging and clinical outcomes

Aging Cell(2021)10.1111/acel.13366

N/A

3.3DataRank · unranked

134 citations

Ake T. Lu, Alexander G. Bick, Pradeep Natarajan, Joshua Weinstock, Mindy D Szeto +29 more

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Proceedings of the National Academy of Sciences(2020)10.1073/pnas.1902766117

N/A

3.0DataRank · unranked

112 citations

Douglas P. Loesch, James A. Perry, Nancy L. Heard‐Costa, Daniel Taliun, Brian E. Cade +93 more

The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

Cell Metabolism(2023)10.1016/j.cmet.2023.03.001

Top 8%

2.7DataRank

Top 8%136 citations

Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer +82 more

52 Genetic Loci Influencing Myocardial Mass

Journal of the American College of Cardiology(2016)10.1016/j.jacc.2016.07.729

N/A

2.4DataRank · unranked

135 citations

Jessica van Setten, Niek Verweij, Georg Vogler, Matthew T. Maurano, Xinchen Wang +172 more

The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients

Cell Genomics(2023)10.1016/j.xgen.2023.100257

Top 10%

2.2DataRank

Top 10%98 citations

Lars G. Fritsche, Anita Pandit, Brett Vanderwerff, Snehal Patil, Ellen M. Schmidt +9 more

Clonal hematopoiesis in sickle cell disease

Journal of Clinical Investigation(2022)10.1172/jci156060

N/A

1.8DataRank · unranked

54 citations

Liam D. Cato, Joshua S. Weinstock, Yingze Zhang, Mehdi Nouraie, Mark T. Gladwin +17 more

Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb

PLOS Genetics(2019)10.1371/journal.pgen.1008202

N/A

1.7DataRank · unranked

35 citations

Lauren J. Beesley, Peter VandeHaar, Robert B. Peng, Maxwell Salvatore, Matthew Zawistowski +13 more

The Sequence Alignment/Map format and SAMtools

Bioinformatics(2009)10.1093/bioinformatics/btp352

N/A

1.7DataRank · unranked

66179 citations

Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Richard Durbin +5 more

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

Nature Communications(2022)10.1038/s41467-022-33510-7

N/A

1.6DataRank · unranked

75 citations

Xihao Li, Zilin Li, Akhil Pampana, David Zhang, Joseph Park +95 more

Age-of-onset information helps identify 76 genetic variants associated with allergic disease

PLoS Genetics(2020)10.1371/journal.pgen.1008725

Top 13%

1.6DataRank

Top 13%57 citations

Judith M. Vonk, Hansjörg Baurecht, Ingo Marenholz, Chao Tian, Joshua Hoffman +36 more

Model-based assessment of replicability for genome-wide association meta-analysis

Nature Communications(2021)10.1038/s41467-021-21226-z

N/A

1.5DataRank · unranked

40 citations

Yu Jiang, Mengzhen Liu, J. Dylan Weissenkampen, Scott A. Eckert, Lina Yang +125 more

The HUNT study: A population-based cohort for genetic research

Cell Genomics(2022)10.1016/j.xgen.2022.100193

Top 14%

1.5DataRank

Top 14%108 citations

Sarah E. Graham, Ida Surakka, Anne Heidi Skogholt, Mari Løset, Lars G. Fritsche +25 more

Genome sequencing unveils a regulatory landscape of platelet reactivity

Nature Communications(2021)10.1038/s41467-021-23470-9

N/A

1.5DataRank · unranked

54 citations

Ming‐Huei Chen, Benjamin A.T. Rodriguez, Lisa R. Yanek, Arunoday Bhan, Brady Gaynor +94 more

The variant call format and VCFtools

Bioinformatics(2011)10.1093/bioinformatics/btr330

N/A

1.5DataRank · unranked

17436 citations

Joanna M. M. Howson, University of Michigan, Iain Mathieson, Mark A. DePristo, Robert E. Handsaker +8 more

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

Journal of Medical Genetics(2013)10.1136/jmedgenet-2013-102064

N/A

1.4DataRank · unranked

38 citations

Yi-Hsiang Hsu, Unnur Styrkarsdottir, Bert H Eussen, Annelies de Klein, Marjolein J. Peters +81 more

Association of mitochondrial DNA copy number with cardiometabolic diseases

Cell Genomics(2021)10.1016/j.xgen.2021.100006

N/A

1.4DataRank · unranked

62 citations

Ryan J. Longchamps, Kerri L. Wiggins, Laura M. Raffield, Lawrence F. Bielak, Wei Zhao +33 more

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

bioRxiv (Cold Spring Harbor Laboratory)(2018)10.1101/269316

Top 16%

1.3DataRank

Top 16%34 citations

Yossi Farjoun, David Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan +19 more

A catalog of associations between rare coding variants and COVID-19 outcomes

medRxiv(2020)10.1101/2020.10.28.20221804

N/A

1.3DataRank · unranked

31 citations

Julie Horowitz, Nilanjana Banerjee, Rouel Lanche, Anthony Marcketta, Evan K. Maxwell +75 more

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Nature Reviews Genetics(2008)10.1038/nrg2344

N/A

1.2DataRank · unranked

2954 citations

Gonçalo R. Abecasis, Lon R. Cardon, David B. Goldstein, Julian Little, John P. A. Ioannidis +2 more

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Nature Genetics(2022)10.1038/s41588-022-01225-6

N/A

1.2DataRank · unranked

63 citations

Corbin Quick, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu, Han Chen +95 more

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Proceedings of the National Academy of Sciences(2017)10.1073/pnas.1705859115

N/A

1.2DataRank · unranked

36 citations

Alisa Manning, Marcio Almeida, Matthew Zawistowski, Katharina Domschke, Tanya M. Teslovich +82 more

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Nature Genetics(2019)10.1038/s41588-018-0307-5

N/A

1.1DataRank · unranked

2128 citations

Mengzhen Liu, HUNT All-In Psychiatry, Yu Jiang, Robbee Wedow, Yue Li +120 more

Defining the role of common variation in the genomic and biological architecture of adult human height

Nature Genetics(2014)10.1038/ng.3097

N/A

1.1DataRank · unranked

2093 citations

Emilio Rodríguez-Ruiz, The PAGE Consortium, Diana O. Perkins, Tonu Esko, Jian Yang +479 more

Reference-based phasing using the Haplotype Reference Consortium panel

Nature Genetics(2016)10.1038/ng.3679

N/A

1.1DataRank · unranked

1987 citations

Chris O’Sullivan, Pier Francesco Palamara, Christian Fuchsberger, Yakir A Reshef, Hilary K. Finucane +9 more

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Nature Genetics(2014)10.1038/ng.3043

N/A

1.1DataRank · unranked

1956 citations

NeuroGenetics Research Consortium (NGRC), The Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), Alzheimer Genetic Analysis Group, Nathan Pankratz +49 more

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

Nature Genetics(2012)10.1038/ng.2354

N/A

1.1DataRank · unranked

1873 citations

Christian Fuchsberger, Matthew Stephens, Jonathan Marchini, Gonçalo R. Abecasis, Bryan Howie

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Nature Communications(2021)10.1038/s41467-021-22339-1

N/A

1.1DataRank · unranked

51 citations

Akhil Pampana, Sarah E. Graham, Sanni Ruotsalainen, James A. Perry, Paul S. de Vries +95 more

Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT

Communications Biology(2022)10.1038/s42003-022-03529-z

N/A

1.1DataRank · unranked

39 citations

Sarah E. Graham, Kuan-Han H. Wu, Ailin Falkmo Hansen, Sarah A. Gagliano Taliun, Wei Zhou +14 more

GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome

Cell Genomics(2021)10.1016/j.xgen.2021.100069

N/A

1.1DataRank · unranked

39 citations

Xingrong Liu, Indresh Singh, Anita Pandit, Alexander Kurilshikov, Rodrigo Bacigalupe +29 more

The genetic architecture of type 2 diabetes

Nature(2016)10.1038/nature18642

N/A

1.1DataRank · unranked

1106 citations

Menachem Fromer, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton +334 more

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

Molecular Psychiatry(2011)10.1038/mp.2011.154

N/A

1.0DataRank · unranked

874 citations

A J Pocklington, D Ivanov, Samuel A. Rose, Andrew McQuillin, Hywel Williams +46 more

Seven new loci associated with age-related macular degeneration

Nature Genetics(2013)10.1038/ng.2578

N/A

1.0DataRank · unranked

798 citations

Lars G. Fritsche, Wei Chen, Brian L. Yaspan, Yi Yu, Guðmar Þorleifsson +141 more

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Genome Medicine(2021)10.1186/s13073-021-00917-8

Top 21%

0.976DataRank

Top 21%35 citations

Jiwon Lee, Tamar Sofer, Heming Wang, Man Zhang, Han Chen +94 more

Association Between Whole Blood–Derived Mitochondrial DNA Copy Number, Low‐Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk

Journal of the American Heart Association(2023)10.1161/jaha.122.029090

N/A

0.920DataRank · unranked

30 citations

Xianbang Sun, Yuankai Zhang, Wenqing Jiang, M M Lai, Kerri L. Wiggins +40 more

A direct characterization of human mutation based on microsatellites

Nature Genetics(2012)10.1038/ng.2398

N/A

0.895DataRank · unranked

388 citations

Agnar Helgason, Gisli Masson, Sigríður Sunna Ebenesersdóttir, Alexandra P. Lewis, Swapan Mallick +9 more

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

Science(2021)10.1126/science.abf8683

N/A

0.845DataRank · unranked

278 citations

Ankit Gilani, Olukayode Sosina, Jack A. Kosmicki, Lori Khrimian, Yi‐Ya Fang +55 more

Variant-specific inflation factors for assessing population stratification at the phenotypic variance level

Nature Communications(2021)10.1038/s41467-021-23655-2

N/A

0.840DataRank · unranked

21 citations

Xiuwen Zheng, Cecelia Laurie, Stephanie M. Gogarten, Jennifer A. Brody, Matthew P. Conomos +91 more

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Human Molecular Genetics(2011)10.1093/hmg/ddr270

N/A

0.832DataRank · unranked

256 citations

Jesen Fagerness, Stephan Ripke, Gudmar Thorleifsson, Perciliz L. Tan, Eric H. Souied +50 more

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

Nature Genetics(2022)10.1038/s41588-021-01006-7

N/A

0.780DataRank · unranked

180 citations

Jack A. Kosmicki, Amy Damask, Deepika Sharma, Genevieve H. L. Roberts, Anne E. Justice +89 more

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Nature Genetics(2022)10.1038/s41588-021-01011-w

N/A

0.775DataRank · unranked

174 citations

Seung Hoan Choi, Valerie N. Morrill, Mark Chaffin, James P. Pirruccello, Jennifer L. Halford +65 more

Structural variation across 138,134 samples in the TOPMed consortium

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.25.525428

Top 27%

0.737DataRank

Top 27%18 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies

BMC Medicine(2022)10.1186/s12916-022-02535-6

N/A

0.731DataRank · unranked

18 citations

Linda Kachuri, Rebecca E. Graff, Jovia L. Nierenberg, Khanh K. Thai, Stacey Alexeeff +90 more

Germline Mutations in CIDEB and Protection against Liver Disease

New England Journal of Medicine(2022)10.1056/nejmoa2117872

N/A

0.728DataRank · unranked

127 citations

Mary E. Haas, Jonas B. Nielsen, Olukayode Sosina, Minhee Kim, Parsa Akbari +42 more

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative

Human Molecular Genetics(2021)10.1093/hmg/ddab252

Top 28%

0.724DataRank

Top 28%20 citations

Yao Hu, Quan Sun, Deepti Jain, Jai Broome, Ming‐Huei Chen +62 more

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Molecular Psychiatry(2021)10.1038/s41380-020-01006-9

N/A

0.686DataRank · unranked

22 citations

Fernando S. Goes, Adam E. Locke, Duncan S. Palmer, Weiqing Wang, Sarah Cohen‐Woods +71 more

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.09.034454

N/A

0.637DataRank · unranked

69 citations

Peter DeFord, Nathan D. Jackson, Michael T. Montgomery, Jamie L. Everman, Cydney Rios +22 more

Predicting physiological aging rates from a range of quantitative traits using machine learning

Aging(2021)10.18632/aging.203660

N/A

0.637DataRank · unranked

15 citations

Yong Qian, Richard Oppong, Thomas Bütler, Jesse Zhao, Chen, Brian +12 more

Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

Cell Genomics(2024)10.1016/j.xgen.2024.100692

Top 31%

0.635DataRank

Top 31%30 citations

Douglas P. Loesch, Bing Guo, Roland Laboulaye, Diego Véliz-Otani, Jennifer N. French +70 more

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Nature Genetics(2025)10.1038/s41588-025-02074-9

N/A

0.628DataRank · unranked

28 citations

Sean J. Jurgens, Ling Xiao, Matthew C. Hill, Christopher M. Haggerty, Garðar Sveinbjörnsson +95 more

Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry

Mitochondrion(2021)10.1016/j.mito.2021.07.004

N/A

0.624DataRank · unranked

23 citations

Jessica L. Fetterman, Yong Qian, Xianbang Sun, Thomas W. Blackwell, Achilleas Pitsillides +14 more

Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology

Nature Communications(2022)10.1038/s41467-022-28973-7

N/A

0.609DataRank · unranked

57 citations

Jamie L. Everman, Nathan D. Jackson, Benjamin Saef, Cydney Rios, Camille M. Moore +20 more

Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

Biological Psychiatry(2020)10.1016/j.biopsych.2020.06.026

N/A

0.601DataRank · unranked

54 citations

Alison Merikangas, Shefali S. Verma, Anurag Verma, Renae Judy, Gonçalo R. Abecasis +42 more

Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2123000119

N/A

0.599DataRank · unranked

18 citations

Anurag Verma, Yuanqing Feng, Marcelo C. R. Melo, Michael A. McQuillan, Matthew E.B. Hansen +71 more

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

medRxiv(2020)10.1101/2020.12.14.20248176

N/A

0.561DataRank · unranked

41 citations

Jack A. Kosmicki, Amy Damask, Deepika Sharma, Genevieve H. L. Roberts, Anne E. Justice +54 more

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Nature Communications(2020)10.1038/s41467-020-17315-0

N/A

0.546DataRank · unranked

37 citations

Lars G. Fritsche, Wei Zhou, Joshua Backman, Jack A. Kosmicki, Haocheng Lu +45 more

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

Human Molecular Genetics(2020)10.1093/hmg/ddaa057

N/A

0.542DataRank · unranked

36 citations

İlhan E. Acar, Maartje J. Geerlings, Kari Branham, Alan Kwong, Nicole T.M. Saksens +14 more

Twenty loci associated with bone mineral density identified by large-scale meta-analysis of genome-wide association datasets

Bone(2009)10.1016/j.bone.2009.03.085

N/A

0.535DataRank · unranked

9 citations

Unnur Styrkarsdottir, Bjarni V. Halldorsson, Y. Hsu, Audrey Y. Chu, Y.A. Aulchenko +51 more

Genomic and phenomic landscape of clonal hematopoiesis in over a million ancestrally diverse participants

medRxiv(2022)10.1101/2022.07.29.22278015

Top 37%

0.528DataRank

Top 37%13 citations

Zhi Yu, Joshua S. Weinstock, Abhishek Niroula, Satoshi Koyama, Tetsushi Nakao +83 more

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis

Nature Genetics(2023)10.1038/s41588-023-01444-5

N/A

0.500DataRank · unranked

27 citations

Olukayode Sosina, Jonas Bovijn, Lætitia Laurent, Vasundhara Sharma, Parsa Akbari +24 more

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.007

N/A

0.494DataRank · unranked

26 citations

Caitlin McHugh, Linda M. Polfus, Laura M. Raffield, Meher Preethi Boorgula, Thomas W. Blackwell +88 more

Robust, flexible, and scalable tests for Hardy–Weinberg equilibrium across diverse ancestries

Genetics(2021)10.1093/genetics/iyab044

N/A

0.489DataRank · unranked

25 citations

Thomas W. Blackwell, Jonathon LeFaive, Mariza de Andrade, John Barnard, Kathleen C. Barnes +42 more

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Nature Communications(2022)10.1038/s41467-022-35354-7

N/A

0.442DataRank · unranked

18 citations

Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen +54 more

Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data

Genes(2020)10.3390/genes11050586

N/A

0.434DataRank · unranked

17 citations

Sai Chen, Xingyan Wang, Mengzhen Liu, William G. Iacono, John K. Hewitt +15 more

Genetic risk factors for COVID-19 and influenza are largely distinct

Nature Genetics(2024)10.1038/s41588-024-01844-1

N/A

0.406DataRank · unranked

14 citations

Anthony Marcketta, Deepika Sharma, Silvio Alessandro Di Gioia, Samantha Batista, Xiaoman Yang +53 more

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

Science Advances(2023)10.1126/sciadv.abm4945

N/A

0.396DataRank · unranked

13 citations

Cecelia Laurie, Jai Broome, Kent D. Taylor, Xiuqing Guo, Alan R. Shuldiner +82 more

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

Nature Computational Science(2025)10.1038/s43588-024-00764-8

N/A

0.393DataRank · unranked

10 citations

Han Chen, Margaret Sunitha Selvaraj, Eric Van Buren, Hufeng Zhou, Yuxuan Wang +95 more

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration

Human Molecular Genetics(2023)10.1093/hmg/ddad189

N/A

0.385DataRank · unranked

12 citations

Matthew Zawistowski, Lars G. Fritsche, Xiaowei Zhan, Jennifer L. Bragg‐Gresham, Kari Branham +9 more

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Nature Genetics(2026)10.1038/s41588-025-02451-4

N/A

0.370DataRank · unranked

8 citations

Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +212 more

Clonal hematopoiesis is driven by aberrant activation of TCL1A

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.10.471810

N/A

0.360DataRank · unranked

10 citations

Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn, Julia A. Belk +95 more

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

medRxiv(2020)10.1101/2020.12.09.20246736

N/A

0.360DataRank · unranked

10 citations

Adrienne M. Stilp, Caitlin McHugh, Shuquan Rao, Deepti Jain, Xiuwen Zheng +74 more

False discovery rates for genome-wide association tests in biobanks with thousands of phenotypes

10.21203/rs.3.rs-873449/v1

N/A

0.330DataRank · unranked

8 citations

Anita Pandit, Jonathon LeFaive, Sarah Gagliano Taliun, Lars G. Fritsche, Peter VandeHaar +5 more

Clonal hematopoiesis in sickle cell disease

medRxiv(2021)10.1101/2021.06.12.21258772

N/A

0.292DataRank · unranked

6 citations

Liam D. Cato, Joshua S. Weinstock, Yingze Zhang, Mehdi Nouraie, Mark T. Gladwin +17 more

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

medRxiv(2021)10.1101/2021.12.16.21267871

N/A

0.292DataRank · unranked

6 citations

Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen +54 more

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2020)10.1038/s41467-020-15236-6

Top 57%

0.275DataRank

Top 57%2 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

GWAS of stool frequency reveals genes, pathways, and cell types relevant to human gastrointestinal motility and irritable bowel syndrome

medRxiv(2020)10.1101/2020.06.17.20132555

N/A

0.269DataRank · unranked

3 citations

Xingrong Liu, Indresh Singh, Anita Pandit, Alexander Kurilshikov, Rodrigo Bacigalupe +27 more

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.06.23.167759

N/A

0.269DataRank · unranked

5 citations

Thomas W. Blackwell, Jonathon LeFaive, Mariza de Andrade, John Barnard, Kathleen C. Barnes +42 more

Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Nature Genetics(2021)10.1038/s41588-021-00979-9

N/A

0.246DataRank · unranked

4 citations

Masahiro Kanai, Wanson Choi, Xinyi Li, Saori Sakaue, Kenichi Yamamoto +95 more

83 ANALYSIS OF CANDIDATE OSTEOARTHRITIS GENES IN A META-ANALYSIS OF 8 GENOME-WIDE ASSOCIATION STUDIES

Osteoarthritis and Cartilage(2011)10.1016/s1063-4584(11)60110-6

N/A

0.210DataRank · unranked

3 citations

Members of the Rheumatoid Arthritis Challenge Consortium, N.K. Arden, Aravinda Chakravarti, Katharina Domschke, Juan J. Gomez‐Reino Carnota +39 more

Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT

medRxiv(2021)10.1101/2021.09.20.21262960

N/A

0.208DataRank · unranked

3 citations

Ailin Falkmo Hansen, Sarah E. Graham, Sarah A. Gagliano Taliun, Kuan-Han Wu, Wei Zhou +14 more

LabWAS: novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

medRxiv(2020)10.1101/2020.04.08.19011478

Top 65%

0.196DataRank

Top 65%2 citations

Joshua S. Weinstock, Lisa A. Bastarache, Daniel B. Larach, Lars G. Fritsche, Ellen M. Schmidt +6 more

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

UNC Libraries(2021)10.17615/xzx9-fd89

N/A

0.187DataRank · unranked

1 citations

Michael W. Barnhart, Timo T. Valle, Karen L. Mohlke, Michael Boehnke, Heather M. Stringham +36 more

Genetic Associations of Persistent Opioid Use After Surgery Point to OPRM1 but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder

Genetic Epidemiology(2024)10.1002/gepi.22588

N/A

0.184DataRank · unranked

2 citations

Vidhya Gunaseelan, Albert V. Smith, Gonçalo R. Abecasis, Daniel B. Larach, Matthew Zawistowski +3 more

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta ( GP1BB ) that impacts thrombocytopenia

British Journal of Haematology(2020)10.1111/bjh.17090

N/A

0.165DataRank · unranked

2 citations

Maristella Steri, Valeria Orrù, Gabriella Sole, Stefania Olla, Michele Marongiu +20 more

Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations

Nature Communications(2025)10.1038/s41467-025-64236-x

N/A

0.165DataRank · unranked

2 citations

Sharjeel A. Chaudhry, Μαρία Ιωάννου, Maria Viskadourou, Paula Reventún, Yasminka A. Jakubek +49 more

Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application

Mitochondrion(2024)10.1016/j.mito.2024.101954

N/A

0.165DataRank · unranked

2 citations

Katia Bulekova, Jian Yang, M M Lai, Achilleas Pitsillides, Xue Liu +19 more

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

UNC Libraries(2020)10.17615/0ngn-wz27

N/A

0.114DataRank · unranked

1 citations

Juliana C.N. Chan, Karen L. Mohlke, Graeme I. Bell, Robin Young, Steven Wiltshire +53 more

The association between mitochondrial DNA copy number, low-density lipoprotein cholesterol, and cardiovascular disease risk

medRxiv(2022)10.1101/2022.10.23.22281418

N/A

0.104DataRank · unranked

1 citations

Xianbang Sun, Yuankai Zhang, Wenqing Jiang, Lai Meng, Kerri L. Wiggins +40 more

Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium

Nature Communications(2020)10.1038/s41467-020-18781-2

N/A

0DataRank · unranked

196 citations

Peter DeFord, Yingchun Li, Nathan D. Jackson, Michael T. Montgomery, Jamie L. Everman +23 more

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

Nature Methods(2025)10.1038/s41592-025-02919-5

N/A

0DataRank · unranked

0 citations

Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou +544 more

Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.13.337071

N/A

0DataRank · unranked

2 citations

Jessica L. Fetterman, Yong Qian, Xianbang Sun, Kaiyu Yan, Thomas W. Blackwell +15 more

Sparse allele vectors and the savvy software suite

Bioinformatics(2021)10.1093/bioinformatics/btab378

N/A

0DataRank · unranked

15 citations

Albert V. Smith, Hyun Min Kang, Gonçalo R. Abecasis, Jonathon LeFaive

Corrigendum to “A genome-wide association study identifies a common variant near the GPR22 gene as a new locus involved in prevalence and progression of osteoarthritis” [Bone. 44S2 (2009) S224]

Bone(2010)10.1016/j.bone.2009.12.004

N/A

0DataRank · unranked

0 citations

Rik J Lories, Ingrid Meulenbelt, Ingileif Jonsdottir, Ana M. Valdes, Pascal Arp +48 more

Novel KITLG/SCF regulatory variants are associated with lung function in African American children with asthma

medRxiv(2020)10.1101/2020.02.20.20019588

N/A

0DataRank · unranked

0 citations

Satria P. Sajuthi, Jaehyun Joo, Shujie Xiao, Patrick Sleiman, Marquitta J. White +30 more

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia

medRxiv(2020)10.1101/2020.07.06.20143263

N/A

0DataRank · unranked

0 citations

Maristella Steri, Valeria Orrù, Gabriella Sole, Stefania Olla, Michele Marongiu +20 more

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

UNC Libraries(2020)10.17615/2bje-6g29

N/A

0DataRank · unranked

0 citations

Deborah J. Thompson, Hannes Helgason, Timothy M. Frayling, Hilary K. Finucane, Patrick Sulem +211 more

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

UNC Libraries(2020)10.17615/55vz-3f21

N/A

0DataRank · unranked

0 citations

Richard N. Bergman, Katherine S. Elliott, Harald Grallert, Eleftheria Zeggini, Peter Almgren +27 more

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

EBioMedicine(2023)10.1016/j.ebiom.2023.104758

N/A

0DataRank · unranked

19 citations

Priyadarshini Kachroo, Tianxiao Huan, David Van Den Berg, Gha Young Lee, Helena Bui +95 more

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

UNC Libraries(2020)10.17615/a384-d483

N/A

0DataRank · unranked

0 citations

Jerome I. Rotter, Alex P. Reiner, André G. Uitterlinden, Gonçalo R. Abecasis, Digna R. Velez Edwards +95 more

AbCD: arbitrary coverage design for sequencing-based genetic studies

UNC Libraries(2020)10.17615/by87-5v10

N/A

0DataRank · unranked

0 citations

Jian Kang, Kuan Chieh Huang, Yun Li, Zheng Xu, Gonçalo R. Abecasis +1 more

A systematic evaluation of 151 candidate genes for their association with osteoporosis and osteoporotic fracture in a meta-analysis of genome-wide association data

Bone(2009)10.1016/j.bone.2009.03.068

N/A

0DataRank · unranked

0 citations

Thomas Quertermous, Unnur Styrkarsdottir, Bjarni V. Halldorsson, Y. Hsu, B. Mullins +47 more

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

UNC Libraries(2020)10.17615/t89h-5q09

N/A

0DataRank · unranked

0 citations

Alexander Teumer, Carlo Sidore, Julius S. Ngwa, Mary L. Marazita, Richard J. Crout +27 more

Association analysis of mitochondrial DNA heteroplasmic variants: methods and application

medRxiv(2024)10.1101/2024.01.12.24301233

N/A

0DataRank · unranked

0 citations

Katia Bulekova, Jian Yang, M M Lai, Achilleas Pitsillides, Xue Liu +20 more

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

UNC Libraries(2024)10.17615/mbk9-3d37

Top 100%

0DataRank

Top 100%0 citations

Xihong Lin, Sutapa Mukherjee, J. Rotter, Eric Boerwinkle, Xiuqing Guo +36 more

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

UNC Libraries(2024)10.17615/gad3-dw62

N/A

0DataRank · unranked

0 citations

R.S. Kahn, Gonçalo R. Abecasis, Neil Risch, Andrew McQuillin, Aiden Corvin +71 more

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

UNC Libraries(2024)10.17615/6n4z-q211

N/A

0DataRank · unranked

0 citations

Jacob C. Ulirsch, Alex P. Reiner, Gonçalo R. Abecasis, Joshua D. Smith, Ethan M. Lange +20 more

Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

Lume (Universidade Federal do Rio Grande do Sul)(2024)10.17615/anr2-h090

N/A

0DataRank · unranked

0 citations

Carla Luana Dinardo, Bing Guo, Ignácio F. Mata, Jill M. Johnsen, Robert C. Kaplan +73 more

FIVEx: an interactive eQTL browser across public datasets

Bioinformatics(2021)10.1093/bioinformatics/btab614

N/A

0DataRank · unranked

57 citations

Andrew P. Boughton, Mukai Wang, Peter VandeHaar, Michael Boehnke, Gonçalo R. Abecasis +2 more

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

UNC Libraries(2020)10.17615/63sx-0c91

N/A

0DataRank · unranked

0 citations

Mark J. Daly, Johanna Kuusisto, Francis S. Collins, Markku Laakso, Kimberly F. Doheny +24 more

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

UNC Libraries(2025)10.17615/cdn0-cm52

N/A

0DataRank · unranked

0 citations

Russell P. Tracy, Jill M. Johnsen, Hind Bouzid, Nicholas L. Smith, Katherine P. Prothro +95 more

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100069

N/A

0DataRank · unranked

70 citations

Lam C. Tsoi, Rajan P. Nair, Manju Ghosh, Madhulika Kabra, Pakeeza Arzoo Shaiq +18 more

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

UNC Libraries(2020)10.17615/8p33-rs54

N/A

0DataRank · unranked

0 citations

Alex P. Reiner, Lisa Warsinger Martin, Loı̈c Le Marchand, Steven Buyske, Gonçalo R. Abecasis +30 more

Genetic and Functional Characterization of ANGPTL7 as a Therapeutic Target for Glaucoma

Research Square(2021)10.21203/rs.3.rs-858876/v1

N/A

0DataRank · unranked

0 citations

Gaurang Patel, Lauren Gurski, Ariane Ayer, Trikaladarshi Persaud, Matthew Still +49 more

Identification of ten loci associated with height highlights new biological pathways in human growth

UNC Libraries(2021)10.17615/jwbr-0w10

N/A

0DataRank · unranked

0 citations

Frank B. Hu, Peter Kraft, S. Eyheramendy, Candace Guiducci, H.‐Erich Wichmann +26 more

LocusZoom.js: interactive and embeddable visualization of genetic association study results

Bioinformatics(2021)10.1093/bioinformatics/btab186

N/A

0DataRank · unranked

345 citations

Ryan Welch, Matthew Flickinger, Peter VandeHaar, Daniel Taliun, Gonçalo R. Abecasis +2 more

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

Genome Research(2020)10.1101/gr.246934.118

N/A

0DataRank · unranked

101 citations

Matthew Flickinger, Sarah A. Gagliano Taliun, Gonçalo R. Abecasis, Laura J. Scott, Steven A. McCaroll +4 more

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Nature Methods(2022)10.1038/s41592-022-01640-x

N/A

0DataRank · unranked

109 citations

Xihao Li, Hufeng Zhou, Sheila M. Gaynor, Margaret Sunitha Selvaraj, Theodore Arapoglou +95 more

LocusZoom.js: Interactive and embeddable visualization of genetic association study results

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.01.423803

N/A

0DataRank · unranked

35 citations

Ryan Welch, Matthew Flickinger, Peter VandeHaar, Daniel Taliun, Gonçalo R. Abecasis +2 more

Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis

PLoS Genetics(2020)10.1371/journal.pgen.1009060

N/A

0DataRank · unranked

18 citations

Xiaoquan Wen, Gonçalo R. Abecasis, Michael Boehnke, Hyun Min Kang, Corbin Quick

Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

Gastroenterology(2020)10.1053/j.gastro.2020.08.062

N/A

0DataRank · unranked

63 citations

Weiqiang Lin, Wanqing Wen, Jeroen R. Huyghe, Stephanie A. Bien, Qiuyin Cai +81 more

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Nature Genetics(2020)10.1038/s41588-020-0684-4

N/A

0DataRank · unranked

1268 citations

Maristella Steri, Carlo Sidore, Michele Marongiu, Valentina Serra, Stefania Olla +23 more

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Communications Biology(2022)10.1038/s42003-022-03932-6

N/A

0DataRank · unranked

25 citations

Gaurang Patel, Lauren Gurski, Ariane Ayer, Trikaladarshi Persaud, Matthew Still +95 more

Gonçalo R. Abecasis

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